Chromosomes. Chromosome Abnormalities Numerical abnormalities Structural abnormalities Mixoploidy.
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Transcript of Chromosomes. Chromosome Abnormalities Numerical abnormalities Structural abnormalities Mixoploidy.
Consequence of non-disjunction
• Trisomy
–(21) Down syndrome –(13) Patau syndrome–(18) Edward’s syndrome
Disorders of Chromosome Number
• Down Syndrome• Patau and Edwards Syndrome• Klinefelter Syndrome• Turner Syndrome• XXX Females and XYY Males
Down Syndrome• History– 1866 first clinically described by Dr.
Down– 1959 chromosomal basis discovered
• Incidence 1 in 691 births in the US– Majority of cases are diagnosed
prenatally (~60%)
• Prevalence: currently 400,000 in US
•
Patau Syndrome
• Heart defects• Brain or spinal cord abnormalities• Weak muscle tone• Prognosis–45% die within few days/weeks–80% within 1st year
Edward’s syndrome• Clinical symptoms– Structural heart defects– Intestinal abnormalities–Breathing difficulties– Intellectual disability
• Prognosis–Median lifespan – 5-15 days– Longer than 1 year – 8%– Live to 10 years- 1%
Klinefelter Syndrome (XXY)• Incidence- 1 in 1000 live
male births
• Clinical features-– Lower than normal verbal
IQ– Infertility
• Testosterone treatment
Turner Syndrome (X)• Incidence- 1 in 5000 – 10,000
female births
• Clinical features– Loss of ovarian function– Normal intelligence– Developmental delay– Learning disability
• Estrogen treatment from puberty on